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Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23.

Beckwith-Wiedemann syndrome.

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1
University of Toronto, Canada. rweksb@sickkids.ca

Abstract

Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling.

PMID:
16010676
DOI:
10.1002/ajmg.c.30058
[Indexed for MEDLINE]
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